Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

scientific article

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1371/JOURNAL.PGEN.1005894
P932PMC publication ID4788435
P698PubMed publication ID26967905
P5875ResearchGate publication ID297891038

P50authorMarie-Claire GublerQ43257396
Sophie Collardeau-FrachonQ43376288
Marion DelousQ55691694
Alexandre BenmerahQ56582536
Cécile JeanpierreQ56670637
Corinne LebretonQ59387821
Gweltas OdyeQ59597182
Sophie ThomasQ79318101
Yline CapriQ124350906
Corinne AntignacQ28320591
Tania Attié-BitachQ28322360
Sophie SaunierQ28322375
P2093author name stringEmilie Filhol
Flora Silbermann
Fabiola Terzi
Rémi Salomon
Jean-Luc Alessandri
Mohamad Zaidan
Sabine Sigaudy
Marie-Pierre Cordier
Suonavy Khung-Savatovsky
Louise Devisme
Olivier Niel
Anne Dieux-Coeslier
Isabelle Rouvet
Nadia Elkhartoufi
Valentina Grampa
P2860cites workInactivation of YAP oncoprotein by the Hippo pathway is involved in cell contact inhibition and tissue growth controlQ24299106
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisisQ24306642
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaQ24315070
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expressionQ24318443
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansQ24338649
Genetic and pharmacological disruption of the TEAD-YAP complex suppresses the oncogenic activity of YAPQ24594281
Actin remodelling factors control ciliogenesis by regulating YAP/TAZ activity and vesicle traffickingQ38889995
Zebrafish assays of ciliopathiesQ40204733
NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathiesQ41883398
CTGF is a central mediator of tissue remodeling and fibrosis and its inhibition can reverse the process of fibrosisQ42185579
CCN2: a master regulator of the genesis of bone and cartilageQ43095740
Hepatocyte nuclear factor 1β controls nephron tubular developmentQ45345858
The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.Q45354108
3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disordersQ46720230
Defective planar cell polarity in polycystic kidney diseaseQ46845250
Control of tissue growth by Yap relies on cell density and F-actin in zebrafish fin regeneration.Q47073681
A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafishQ47073857
Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease.Q51789472
The Crumbs complex couples cell density sensing to Hippo-dependent control of the TGF-β-SMAD pathway.Q52605847
Mutations of NPHP2 and NPHP3 in infantile nephronophthisisQ57955396
Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?Q59619316
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversusQ80545805
The Hippo pathway effectors TAZ and YAP in development, homeostasis and diseaseQ26852353
Atypical protein kinase C induces cell transformation by disrupting Hippo/Yap signalingQ27305890
Yap- and Cdc42-dependent nephrogenesis and morphogenesis during mouse kidney developmentQ27323992
Nephronophthisis and related syndromesQ28081939
Hippo pathway inhibits Wnt signaling to restrain cardiomyocyte proliferation and heart sizeQ28507019
Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary ciliaQ28585433
HNF1B controls proximal-intermediate nephron segment identity in vertebrates by regulating Notch signalling components and Irx1/2Q28586088
The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafishQ28586620
The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesisQ30505167
Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityQ34000871
Hippo pathway activity influences liver cell fateQ34060093
Lipocalin 2 is essential for chronic kidney disease progression in mice and humansQ34245315
The biology of YAP/TAZ: hippo signaling and beyondQ34442079
Scribble participates in Hippo signaling and is required for normal zebrafish pronephros developmentQ34980829
ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterningQ35180480
NPHP4, a cilia-associated protein, negatively regulates the Hippo pathwayQ35196050
TEAD and YAP regulate the enhancer network of human embryonic pancreatic progenitorsQ35615595
Loss of the ciliary kinase Nek8 causes left-right asymmetry defectsQ36509302
Current insights into renal ciliopathies: what can genetics teach us?Q36780455
Yes-associated protein up-regulates Jagged-1 and activates the Notch pathway in human hepatocellular carcinomaQ36881080
Emerging roles of TEAD transcription factors and its coactivators in cancersQ36901489
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3Q37205532
Gamma-H2AX - a novel biomarker for DNA double-strand breaks.Q37210367
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumQ37624332
Clinical spectrum and pathogenesis of nephronophthisisQ37990376
Cell cycle regulation by the NEK family of protein kinasesQ38058294
The Hippo pathway: regulators and regulationsQ38083640
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue3
P304page(s)e1005894
P577publication date2016-03-11
P1433published inPLOS GeneticsQ1893441
P1476titleNovel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
P478volume12

Reverse relations

cites work (P2860)
Q49239818A cleavage product of Polycystin-1 is a mitochondrial matrix protein that affects mitochondria morphology and function when heterologously expressed
Q47706146A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies
Q54118212Actin organization and endocytic trafficking are controlled by a network linking NIMA-related kinases to the CDC-42-SID-3/ACK1 pathway.
Q102369192Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left-right patterning
Q52656392Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mechanistic targets for (R)-roscovitine and (S)-CR8.
Q89759184Control of clathrin-mediated endocytosis by NIMA family kinases
Q28117486DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis
Q56992139Genetic Renal Diseases: The Emerging Role of Zebrafish Models
Q58554389Loss of function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish
Q92661860MOB (Mps one Binder) Proteins in the Hippo Pathway and Cancer
Q47833085Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.
Q39137312Mechanisms for nonmitotic activation of Aurora-A at cilia.
Q28975782Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
Q36320552Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.
Q36205224NEK8 regulates DNA damage-induced RAD51 foci formation and replication fork protection
Q58573422Never-in-mitosis A-related kinase 8, a novel target of von-Hippel-Lindau tumor suppressor protein, promotes gastric cancer cell proliferation
Q92371120Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy
Q91260357Polycystin-1 Regulates Actomyosin Contraction and the Cellular Response to Extracellular Stiffness
Q47358770Protein localization screening in vivo reveals novel regulators of multiciliated cell development and function.
Q52882939Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.
Q92827395Yap and its subcellular localization have distinct compartment-specific roles in the developing lung
Q41997755Zebrafish: A Functional Refuge at the End of an Odyssey.